Table 5.
Composite genotype frequencies for rs3819122 (SMAD4) and rs16865677 (SF3B1) according to the number of BC cases per family in BRCA1/2-negative breast cancer cases and controls.
| Composite Genotypes | Families with ≥2 BC and/or OC Cases (n = 163) | Families with ≥3 BC and/or OC Cases (n = 151) | ||||||
|---|---|---|---|---|---|---|---|---|
| SMAD4 | SF3B1 | Controls n = 1261 (%) |
BC Cases (%) |
OR [95% CI] |
p-Value a | BC Cases (%) |
OR [95% CI] |
p-Value a |
| rs3819122 | rs16865677 | |||||||
| A/A | G/G | 336 (26.62) | 31 (19.02) | 1.0 (ref) | - | 35 (23.18) | 1.0 (ref) | - |
| A/A | G/T | 153 (12.12) | 7 (4.29) | 0.4 [0.2–1.1] | 0.10 | 13 (8.61) | 0.8 [0.4–1.5] | 0.63 |
| A/A | T/T | 22 (1.74) | 3 (1.84) | 1.4 [0.4–5.2] | 0.46 | 2 (1.32) | 0.8 [0.1–3.8] | 1.00 |
| A/C | G/G | 390 (30.90) | 62 (38.04) | 1.7 [1.0–2.7] | 0.019 | 51 (33.77) | 1.2 [0.7–1.9] | 0.36 |
| A/C | G/T | 155 (12.28) | 26 (15.95) | 1.8 [1.0–3.1] | 0.037 | 20 (13.25) | 1.2 [0.6–2.2] | 0.54 |
| A/C | T/T | 23 (1.82) | 3 (1.84) | 1.4 [0.4–4.9] | 0.48 | 3 (1.99) | 1.2 [0.3–4.3] | 0.72 |
| C/C | G/G | 130 (10.30) | 20 (12.27) | 1.6 [0.9–3.0] | 0.10 | 17 (11.26) | 0.6 [0.3–1.3] | 0.31 |
| C/C | G/T | 48 (3.80) | 11 (6.75) | 2.4 [1.1–5.2] | 0.03 | 10 (6.62) | 2.0 [0.9–4.3] | 0.10 |
| C/C | T/T | 5 (0.40) | 0 (0.00) | 0.9 [0.05–18.00] | 1.00 | 0 (0.00) | 0.8 [0.04–15.90] | 1.00 |
BC: breast cancer, OC: ovarian cancer, OR: odds ratio, CI: confidence interval; a Fisher’s exact test; bold values are statistically significant (p < 0.05).